Endoscopic lateral parathyroidectomy as surgical treatment for patients with primary hyperparathyroidism

Antecedentes La mayoría de los cirujanos han aceptado de una manera rápida, la realización de miniprocedimientos abiertos para el tratamiento del hiperparatiroidismo primario. Sin embargo, la utilización de la endoscopia cervical sigue siendo discutible por su dificultad técnica y la estricta selección de los pacientes. Material y métodos Entre los meses de abril del 2010 y del 2013, se incluyó a pacientes con hiperparatiroidismo primario esporádico (sPHPT), que además tenían un adenoma único tanto por ecografía y exploración con sestamibi, y que aceptaron participar en el estudio. Los pacientes fueron operados por cirujanos especialmente entrenados en este tipo de cirugía, utilizando la misma técnica quirúrgica en todos ellos. Se recogieron variables demográficas y características clínicas de los pacientes. Una vez finalizada la recolección de información se procedió al análisis descriptivo de las variables (mediana, desviación estándar y rango). Resultados Realizamos un total de 28 paratiroidectomías mediante el abordaje de paratiroidectomía lateral endoscópica. La edad media de los pacientes fue de 68 años (59-89). Todos los pacientes tuvieron un hiperparatiroidismo primario esporádico. No se detectaron complicaciones intraoperatorias. La morbilidad fue comparable con la que muestran series publicadas en técnica abierta. Tras una mediana de seguimiento de 22 (9-53) meses, hemos detectado que el éxito de la intervención ha sido de 27/28 (96%). Conclusiones El abordaje endoscópico del hiperparatiroidismo primario sPHPT resulta factible, reproducible y ofrece unos resultados comparables al abordaje clásico abierto, diversos factores hacen poco recomendable su realización fuera de hospitales con alto volumen de pacientes y unidades diferenciadas de Cirugía Endocrina

Pheochromocytoma as a rare cause of arterial hypertension in a patient with autosomal dominant polycystic kidney disease: A diagnostic and therapeutic dilemma.

INTRODUCTION: Individuals with autosomal dominant polycystic kidney disease (ADPKD) frequently suffer arterial hypertension even prior to significant loss of renal function, a clinical situation that obscures detection of modifiable secondary causes of hypertension. PRESENTATION OF CASE: A 50-year-old man with ADPKD and polycystic liver and resistant hypertension is diagnosed with a 4-cm right adrenal mass. Cross-sectional MRI is indicative of pheochromocytoma versus adrenocortical carcinoma or metastasis, though there are no typical PCC symptoms and plasma and urine metanephrines are within normal ranges. Since malignancy cannot be excluded, right adrenalectomy is performed. Considering that the enlarged liver poses an obstacle for transperitoneal open and laparoscopic approaches, a retroperitoneoscopic approach is used. Surgical pathology reveals a 4.5-cm pheochromocytoma; the patient no longer requires antihypertensive therapy. DISCUSSION & CONCLUSION: Pheochromocytoma is a rare but treatable cause of hypertension in ADPKD; given the anatomical complexities these patients present, careful preoperative planning and surgical technique are essential to a favorable outcome

Comparison of [18F] fluorocholine PET/CT with [99mTc] sestamibi and ultrasonography to detect parathyroid lesions in primary hyperparathyroidism: a prospective study.

Background: Primary hyperparathyroidism is a common endocrine disorder produced by the increase of parathyroid hormone (PTH) due to a benign adenoma of a single parathyroid gland, or as multiple gland hyperplasia, or as a rare malignant tumor. Preoperative imaging scans are frequently necessary for the minimally invasive parathyroidectomies to identify the location of enlarged parathyroid glands and to design the procedure. Methods: The diagnostic reliability of [18F]fluorocholine positron emission tomography/computed tomography (FCH PET/CT), [99mTc]sestamibi [multiplexed ion beam imaging (MIBI)] and cervical ultrasonography was analyzed in 37 patients diagnosed with primary hyperparathyroidism undergoing minimally invasive parathyroidectomy. The three preoperative imaging techniques were correlated with intraoperative and histopathological findings as well as changes in biochemical parameters (serum PTH and calcium levels). Statistical analysis was carried out with SPSS version 24.0. Results: In 30 of 37 patients (81.1%), FCH PET/CT correctly localized the pathological gland. In 3 cases of ectopic adenomas, the accuracy of the techniques was 100% (3/3) for FCH PET/CT, 66.7% (2/3) for MIBI, and 33.3% (1/3) for neck ultrasonography. Neither neck ultrasonography nor MIBI were able to locate pathological parathyroid glands in those patients with multiglandular disease, while FCH PET/CT correctly located one patient (1/3, 33.3%) with two adenomas and 3 patients (3/6, 50.0%) with hyperplasia. The three imaging techniques, FCH PET/CT, MIBI and neck ultrasound yielded a sensitivity of 92.1%, 57.9% and 32.4%, a positive predictive value of 94.6%, 84.6% and 78.6%, and a diagnostic accuracy of 96.4%, 85.7% and 79.0%, respectively. Conclusions: In this group of patients diagnosed with primary hyperparathyroidism, FCH PET/CT was superior to MIBI and neck ultrasound in detecting adenomas, particularly in the presence of ectopic glands or multiglandular disease

Lack of detection of Mycobacterium microti infection in wild rodents from a free‑ranging wild boar outbreak area

Wild small rodents are considered the natural reservoirs of Mycobacterium microti, a member of the Mycobacterium tuberculosis complex (MTBC) that can cause tuberculosis (TB) in humans and animals, as well as interfere with current tuberculosis eradication plans in livestock. A cross-sectional study was carried out in the Catalan Pyrenees (Iberian Peninsula) in an area where M. microti was previously isolated from wild boars, to evaluate the role of micromammals in the epidemiology of this outbreak. A total of 350 wild rodents were necropsied (306 Murinae and 44 Arvicolinae) in spring and autumn during two consecutive natural years. Tissues were analyzed by histopathology to look for TB-like lesions and by qPCR and culture to detect MTBC. Sera were analyzed by MTBC-specifc ELISA. No evidence of TB infection in wild rodents was confrmed. Results suggest that small rodents did not play a role in the epidemiology of M. microti in the area. The source of this mycobacterium remains unknown, but previous detections of M. microti in various species in southern France suggest the movements of wild boars across the French Pyrenees as the most likely origin of the outbreak detected in the Iberian Peninsula.Open Access Funding provided by Universitat Autonoma de Barcelona. This work was supported by the Grant EFA357/INNOTUB (Program Interreg POCTEFA 2004–2020) and the Department of Climate Action, Food, and Rural Agenda (DACC) of the Government of Catalonia and. IRTA is supported byCentres de Recerca de Catalunya(CERCA) Programme /Generalitat de Catalunya(www.cerca. cat). M. P. R. was funded through the 2021 FI Scholarship, Departament de Recerca i Universitats, Generalitat de Catalunya, Spain (FI_B 00171). C. M. is recipient of a pre-doctoral grant of the program “Don Carlos Antonio López” of the Republic of Paraguay (Ref. 88/2020).info:eu-repo/semantics/publishedVersio

TOX3 rs3803662 Polymorphism Is Associated With Breast Cancer Protection In Northeastern Mexican Woman

Introduction: Low penetrance genes are involved in breast cancer (BC) and confer risk for the development of this neoplasia. Different single nucleotide polymorphisms (SNPs) associated with BC have been identified, such as rs3803662 (TOX3), which is related to estrogen receptors in European and African-American women. The contribution of this variant in the Mexican population is unknown. The objective of this study was to evaluate, through a case-control design, the association of the SNP rs3803662 (TOX3), with the risk of BC in women from northeastern Mexico. Methods: We included 434 cases and 228 controls. Genotyping was carried out using RFLPs. The SPSS 7.0 statistical program was used to determine the gene frequencies, the estimation of the relative risk (Odds ratio [OR]), and the Hardy-Weinberg equilibrium (EHW). Results: The homocygote (T/T) genotype of the SNP TOX3 rs3803662 was identified as a protective allele for BC (OR: 0.47, 95% CI: 0.29 - 0.78). Conclusions; The T allele of the SNP rs3803662 can be considered as a protective factor for BC from northeastern Mexico women

Application of fibrin sealant in patients operated on for differentiated thyroid cancer. What do we improve?

Antecedentes En los últimos años han aparecido diferentes publicaciones que demuestran que los nuevos sellantes adhesivos, como Tissucol®, que son aplicados en el espacio tiroideo reducen las complicaciones locales tras tiroidectomías complejas. Objetivos Mostrar la eficacia del adhesivo de fibrina Tissucol® en la reducción de la estancia hospitalaria postoperatoria de los pacientes intervenidos de carcinoma diferenciado de tiroides en quienes se realizó tiroidectomía total con vaciamiento ganglionar central y unilateral. Material y métodos Realizamos un estudio prospectivo y aleatorizado, durante el periodo comprendido entre mayo de 2009 y octubre de 2013, en pacientes con carcinoma diferenciado de tiroides con metástasis ganglionares cervicales, para la realización de cirugía programada. Se formaron 2 grupos: en los que se utilizó Tissucol® (grupo caso) y en los que no (grupo control). Los pacientes fueron operados por cirujanos especialmente dedicados a patología quirúrgica endocrina, utilizando la misma técnica en todos ellos. Resultados Realizamos 60 tiroidectomías totales con vaciamiento ganglionar: 30 en el grupo caso, que se compararon con 30 del grupo control. No observamos diferencias significativas en la mayoría de las variables estudiadas; no obstante, el grupo caso presentó una menor estancia hospitalaria respecto al grupo control, con una diferencia estadísticamente significativa (p<0.05). Conclusión La aplicación del Tissucol® ha permitido reducir la estancia hospitalaria de los pacientes operados de tiroidectomía total con vaciamiento cervical, lo que representa para el hospital una reducción de costos, sin que ello influya en la aparición de complicaciones relacionadas con la intervención

DPYD pathogenic variants associated with fluoropyrimidines toxicity

Background: Genetic variants in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism. DPYD contributes to the development of severe FPs-related toxicity, and pathogenic DPYD variants detection reduces side effects and complications associated with FP-toxicity. The allelic frequency of these variants in the Mexican population is currently unknown. Methods: The study was carried out at the Centro Universitario Contra el Cáncer (CUCC) of the Universidad Autónoma de Nuevo León (UANL) in Monterrey México. Genomic DNA was isolated from 154 subjects using the QIAamp DNA Blood Midi kit (QIAGEN) following the manufacturer\u27s recommendations. We analyze the variants c.1156G-\u3eT, c.2846A-\u3eT, and c.1129-5923C-\u3eG by qPCR using predesigned probes. For the remaining genomic variants (c.1905+1G-\u3eA, c.1679T-\u3eG, c.1898delC and c.299_302delTCAT), we design sequencing oligos using the software Oligo Primer v.7®. The allele frequency was calculated for each variant. Results: We analyzed a total of 154 samples to detect the seven variants analyzed. So far, only 2 samples have been found that presented the variant c.1129-5923C\u3eG in a state of heterozygosis, representing 1.2987% of the total of our population. Conclusions: The allele frequency for the variant c.1129-5923C-\u3eG was higher than reported in other populations. So this allele is more common in our population, which could attribute to the large percentage of side effects in our patients. However, more studies and increasing the number of samples are needed to establish DPYD the allele frequency more precisely

Risk Association of TOX3 and MMP7 Gene Polymorphisms with Sporadic Breast Cancer in Mexican Women

Breast cancer (BC) has one of the highest incidences and mortality worldwide. Single nucleotide polymorphisms (SNPs) in TOX3 rs3803662 and MMP7 rs1943779 have been associated with susceptibility to BC. In this case-control study, we evaluated the association of rs3803662 (TOX3)/rs1943779 (MMP7) SNPs with clinical features, immunohistochemical reactivity, and risk association with BC in women from northeastern Mexico. We compared 212 BC cases and 212 controls. DNA was isolated from peripheral blood to perform the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. We calculated genotype frequencies, odds ratios, and 95% confidence intervals. We found that CT (Cytocine-Thymine) and TT (Thymine -Thymine) genotypes, and T alleles of TOX3 rs3803662, were associated with BC risk (p = 0.034, p = 0.011, respectively). SNP TOX3 rs3803662 was associated with positive progesterone receptors (PR) and triple-negative BC (TNBC) but not with estrogen receptor (ER) or HER2 reactivity. CT and TT genotypes (p = 0.006) and T alleles (p = 0.002) of SNP MMP7 rs1943779 were associated with risk of BC. We found that T alleles of TOX3 rs3803662 and MMP7 rs1943779 SNPs are associated with BC risk. These findings contribute to personalized medicine in Mexican women

Allelic frequency of DPYD genetic variants: implementation of a genotyping test in Mexican population

Background: Fluoropyrimidine-based (FP) chemotherapy is extensively used to treat solid cancers, including colorectal and breast cancer. A dihydropyrimidine dehydrogenase (DPD) enzyme deficiency, encoded by the dihydropyrimidine dehydrogenase (DPYD) gene, increases the risk of severe toxicity. FP toxicity affects about 30-40% of patients, which in some cases may be lethal. FPs have been used for over 50 years, and an estimated 2 million cancer patients are treated with FP drugs annually. In particular, FPs remain among the most effective drugs for treating GI malignancies, including colorectal cancer (CRC) (1.8 million), gastric (1 million), and pancreatic cancer (n=460,000). In Mexican oncology practice, FP and capecitabine chemotherapies are the most common drugs for gastrointestinal, head and neck, and breast tumors. DPYD genotyping aims to identify variants that lead to DPD deficiency. We implemented a seven-allelic genotyping test and analyzed the frequency in the Mexican population. Methods: We included seven DPYD variants: c.1129-5923C-\u3eG, c.2846A-\u3eT associated with increased risk toxicity (reduced activity), and c.1156G-\u3eT, c.1905+1G-\u3eA, c.1679T-\u3eG, c.1898delC, and c.299_302delTCAT associated with high risk for FP toxicity (no activity or significantly reduced activity). Genomic DNA was isolated from 280 subjects: 36 cancer patients and 244 non-cancer subjects. We analyzed DPYD variants by real-time PCR (c.1156G-\u3eT, c.2846A-\u3eT, and c.1129-5923C-\u3eG) and Sanger sequencing (c.1905+1G-\u3eA, c.1679T-\u3eG, c.1898delC and c.299_302delTCAT) The allele frequency was calculated for each variant. Results: For Sanger sequencing, primers were designed to amplify four variants. Amplified products of the expected size were obtained. Three variants were amplified using TaqMan probes and synthetic positive controls for both alleles. We found the c.1129-5923C\u3eG variant in the heterozygous state in 1% (n= 3), and the c.2846A\u3eT variant was found in 0.33% (n=1) of the participants. We did not found the rest of the variants in the Mexican population. Conclusions: The allele frequency for two of the seven analyzed variants (c.1129-5923C-\u3eG and the c.2846A\u3eT) was higher than reported for the global population (0.00476, and 0.005166). DPYD genotyping may help identify patients at higher risk of developing severe FP toxicity. Personalized medicine allows oncologists to modify the treatment before it begins

Megalencephalic leukoencephalopathy with subcortical cysts: a personal biochemical retrospective

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to motor and cognitive impairments. To date, there is no treatment for MLC, only supportive care. MLC is caused by mutations in the MLC1 and GLIALCAM genes. MLC1 is a membrane protein with low identity to the Kv1.1 potassium channel and GlialCAM belongs to an adhesion molecule family. Both proteins form a complex with an as-yet-unknown function that is expressed mainly in the astrocytes surrounding the blood-brain barrier and in Bergmann glia. GlialCAM also acts as an auxiliary subunit of the chloride channel ClC-2, thus regulating its localization at cell-cell junctions and modifying its functional properties by affecting the common gate of ClC-2. Recent studies in Mlc1-,GlialCAM-and Clcn2-knockout mice or Mlc1- knockout zebrafish have provided fresh insight into the pathophysiology of MLC and further details about the molecular interactions between these three proteins. Additional studies have shown that GlialCAM/MLC1 also regulates other ion channels (TRPV4, VRAC) or transporters (Na+/K+-ATPase) in a not-understood manner. Furthermore, it has been shown that GlialCAM/ MLC1 may influence signal transduction mechanisms, thereby affecting other proteins not related with transport such as the EGFreceptor. Here, we offer a personal biochemical retrospective of the work that has been performed to gain knowledge of the pathophysiology of MLC, and we discuss future strategies that may be used to identify therapeutic solutions for MLC patients